Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years

Abstract

IBD in children with disease onset before the age of 2 years is frequently unclassifiable into Crohn's disease and ulcerative colitis, particularly treatment resistant, and can be indistinguishable from monogenic diseases with IBD-like phenotype.

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

“…Steroids were administered to 17 patients (4,17,23,26,27,30,(32)(33)(34). No effect was reported in 11 patients and in 5 patients only a partial amelioration was noted.…”

“…In one patient (33) there were no details and it was before HSCT. It should be noted that the patients with partial effect presented with some aspect of IBD-like SD/THE (17,26,27,32). In some cases steroids were given in combination with immunosuppressant drugs.…”

“…Seven drugs were used for a combined total of 24 times in 13 patients (4,17,26,27,30,32,33). Thus, some patients were given multiple drugs, either sequentially or at the same time.…”

“…Summing up: 5 ASA was used four times with no effect in three patients (17,27) and one case of partial amelioration in combination with steroids (27). Azathioprine was used 5 times, with no effect in 4 patients (4,17,26) and possibly a partial amelioration in one (26). Ciclosporine was used in two patients in combination with steroids: one patient died of infection (30) and the other showed only a mild improvement (4).…”

“…Methotrexate was used in one patient (17) with no effect. Sirolimus was used in 2 patients without effect, Tacrolimus was used twice in 3 patients without any effect (17,26) and one before HSCT (33). Anti-TNF antibody was used in 7 patients; for one there was no description of outcome (33), for 2 (17) there was no improvement, for 3 there was a partial and inconsistant improvement (26,27,32).…”